ClinVar Miner

Submissions for variant NM_001099287.2(NIPAL4):c.1057G>T (p.Ala353Ser)

dbSNP: rs367993555
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333757 SCV001526432 uncertain significance Autosomal recessive congenital ichthyosis 6 2018-03-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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